Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8496
Gene name Gene Name - the full gene name approved by the HGNC.
PPFIB scaffold protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPFIBP1
Synonyms (NCBI Gene) Gene synonyms aliases
L2, NEDSMBA, SGT2, hSGT2, hSgt2p
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p11.23-p11.22
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017273 hsa-miR-335-5p Microarray 18185580
MIRT020577 hsa-miR-155-5p Proteomics 18668040
MIRT707461 hsa-miR-548c-3p HITS-CLIP 21572407
MIRT707460 hsa-miR-6732-3p HITS-CLIP 21572407
MIRT707459 hsa-miR-10a-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15161933, 15778465, 24120883, 32296183, 33060197, 35271311, 36217029, 36931259
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603141 9249 ENSG00000110841
Protein
UniProt ID Q86W92
Protein name Liprin-beta-1 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1) (PTPRF-interacting protein-binding protein 1) (hSGT2)
Protein function May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 645 709 SAM domain (Sterile alpha motif) Domain
PF00536 SAM_1 718 780 SAM domain (Sterile alpha motif) Domain
PF07647 SAM_2 804 874 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Absent in liver. {ECO:0000269|PubMed:9624153}.
Sequence
MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLE
MMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQV
SVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLK
LKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKSLMAKLSS
MKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVD
RDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSS
SISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSME
TSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKE
TIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTAS
APNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQ
STTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQG
LGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALG
SEEETNHGKLD
FNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLR

INNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVL
EPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLI
GAEAQHQKRDAMELPDYVLLTATAKV
KPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLE
QMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV
Sequence length 1011
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Receptor-type tyrosine-protein phosphatases
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Microcephaly neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities N/A N/A GenCC
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 25737553
Chondrosarcoma Associate 16779802
Fuchs' Endothelial Dystrophy Associate 28118661
Histiocytoma Benign Fibrous Associate 29327718
Microcephaly Associate 30214071
Neoplasms Associate 16779802